Department of Pediatric Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
Department of Pediatric Endocrinology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
Pediatr Int. 2020 May;62(5):609-614. doi: 10.1111/ped.14230.
Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF.
This retrospective study reviewed age, gender, parental consanguinity, family history, presence of encephalopathy, laboratory parameters, and clinical outcomes of the patients that presented to our clinic between January 2009 and January 2019. Patients with MD-associated ALF were compared with patients in whom ALF was associated with other etiologies.
The study included 39 patients (53.8% boys; mean age + SD 6.13 ± 1.43 years). The total and direct bilirubin, international normalized ratio, and ammoniac levels were significantly higher in patients with MD than in the others (P < 0.05). Moreover, the incidences of hypoglycemia, death of a sibling and / or a family history of liver disease were also higher in patients with MD than in the others (P < 0.05). On the other hand, alanine aminotransferase (ALT) levels were significantly higher in patients with other etiologies.
Metabolic diseases should be kept in mind in patients with a history of parental consanguinity and a positive family history of liver disease along with less increased alanine aminotransferase than expected, and increased bilirubin, international normalized ratio, and ammoniac levels and hypoglycemia. As the number of these parameters increases, the chance of diagnosis increases.
急性肝衰竭(ALF)是一种罕见的多系统疾病,发生于无肝脏疾病史的个体,其特征为急性肝损伤继发的凝血功能障碍和/或肝性脑病。该病主要由病毒感染、药物中毒和代谢性疾病(MD)引起,也可能病因不明。本研究旨在评估以 MD 为病因的 ALF 患者的人口统计学和临床特征及临床结局。
本回顾性研究分析了 2009 年 1 月至 2019 年 1 月期间在我院就诊的患者的年龄、性别、父母近亲婚配、家族史、肝性脑病的存在、实验室参数和临床结局。将以 MD 为病因的 ALF 患者与 ALF 病因与其他病因的患者进行比较。
本研究纳入 39 例患者(53.8%为男性;平均年龄±标准差 6.13±1.43 岁)。与其他病因的患者相比,MD 患者的总胆红素、直接胆红素、国际标准化比值和血氨水平显著更高(P<0.05)。此外,MD 患者低血糖、兄弟姐妹死亡和/或家族肝脏疾病史的发生率也高于其他病因的患者(P<0.05)。另一方面,其他病因患者的丙氨酸氨基转移酶(ALT)水平显著更高。
对于有父母近亲婚配和阳性家族肝脏疾病史的患者,如果出现预期 ALT 水平升高不明显、胆红素、国际标准化比值和血氨水平升高及低血糖,应考虑 MD。这些参数的数量越多,诊断的可能性越大。